Book chapter
42 - Macular dystrophies
Ryan's Retina, pp.879-925
Elsevier, Seventh Edition
2023
DOI: 10.1016/B978-0-323-72213-1.00051-2
Abstract
Macular dystrophies are genetic disorders associated with characteristic pathologic ocular lesions that are biomicroscopically visible in the macula when (or before) symptoms first occur. This chapter discusses the clinicians’ initial approach to patients with macular dystrophies, then details individual dystrophies by genetic cause, inheritance pattern, clinical features, expected ancillary test results, pathophysiology, and treatment. Example images of fundus findings for these disorders with genetic confirmation are shown. The dystrophies discussed in this chapter include Best (BEST1), Stargardt (ABCA4, ELOVL4, PROM1), Pattern (RDS/peripherin/PRPH2), vitelliform (RDS, IMPG1/2), maternally inherited diabetes and deafness (mitochondrial), Sorsby (TIMP3), occult macular dystrophy (RP1L1), autosomal dominant radial drusen (also known as malattia leventinese and Doyne honeycomb; EFEMP1/fibulin-3), North Carolina (PRDM13/IRX1), and fenestrated sheen; as well as membranoproliferative glomerulonephritis and genetic forms of cystoid macular edema. Medications that can cause macular changes masquerading as macular dystrophies are also listed.
Details
- Title: Subtitle
- 42 - Macular dystrophies
- Creators
- Ian C. HanRobert F. MullinsEdwin M. StoneElliott H. Sohn
- Resource Type
- Book chapter
- Publication Details
- Ryan's Retina, pp.879-925
- Edition
- Seventh Edition
- DOI
- 10.1016/B978-0-323-72213-1.00051-2
- Publisher
- Elsevier; London
- Language
- English
- Date published
- 2023
- Academic Unit
- The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Fraternal Order of Eagles Diabetes Research Center; Ophthalmology and Visual Sciences
- Record Identifier
- 9984949520202771
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